QuyenAnhDE/medical huggingface dataset:
persistent generalized lymphadenopathy
Definition: A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found. [ISBN:978-0-443-06839-3, url:http://en.wikipedia.org/wiki/Persistent_generalized_lymphadenopathy]
Synonyms: PGL
oral hairy leukoplakia
Definition: A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus.
Synonyms: hairy leukoplakia
orofaciodigital syndrome I
Definition: An orofaciodigital syndrome characterized_by polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of the OFD1 gene.
Synonyms: Papillon-Leage-Psaume syndrome
lung abscess
Definition: A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid.
acute promyelocytic leukemia
Definition: An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.
Synonyms: APL
cardiac arrest
Definition: A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. [ISBN:0-07-140235-7, url:http://en.wikipedia.org/wiki/Cardiac_arrest, url:http://www.nlm.nih.gov/medlineplus/cardiacarrest.html]
Synonyms: circulatory arrest
inguinal hernia
Definition: An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal.
umbilical hernia
Definition: A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles.
mastoiditis
Definition: A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.
breast abscess
Definition: A breast disease characterized by a collection of pus in the breast.
dental abscess
Definition: A tooth disease characterized by a localized collection of pus associated with a tooth.
cervical polyp
Definition: A cervix disease characterized by a benign polyp on the surface of the cervical canal. [ISBN:3-7186-5857-7, url:http://en.wikipedia.org/wiki/Cervical_polyp]
myelomeningocele
Definition: A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes.
omphalocele
Definition: A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac.
Synonyms: omphalocoele
anal fistula
Definition: An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin.
ectopic pregnancy
Definition: A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity.
Synonyms: eccyesis
Rapp-Hodgkin syndrome
Definition: An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.
Synonyms: anhidrotic ectodermal dysplasia with cleft lip/palate
mitochondrial complex V (ATP synthase) deficiency nuclear type 2
Definition: A mitochondrial metabolism disease that has material basis in mutation in the TMEM70 gene on chromosome 8q21.
Synonyms: neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency
mitochondrial complex V (ATP synthase) deficiency nuclear type 3
Definition: A mitochondrial metabolism disease that has material basis in mutation in the ATP5E gene on chromosome 20q13.
Synonyms: MC5DN3
mitochondrial complex V (ATP synthase) deficiency nuclear type 4
Definition: A mitochondrial metabolism disease that has material basis in mutation in the ATP5A1 gene on chromosome 18q.
Synonyms: MC5DN4
transient neonatal diabetes mellitus
Definition: A neonatal diabetes mellitus characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients. [PMID:17349054, url:http://en.wikipedia.org/wiki/Transient_neonatal_diabetes_mellitus]
autosomal dominant sideroblastic anemia
Definition: A sideroblastic anemia characterized by an autosomal dominant inheritance pattern.
3-methylglutaconic aciduria
CEDNIK syndrome
Definition: An autosomal recessive disease caused by homozygous mutation the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis. [PMID:21073448]
Synonyms: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
parameningeal embryonal rhabdomyosarcoma
Definition: An embryonal rhabdomyosarcoma located in the parameningeal region. [PMID:10717216, PMID:23021437]
chronic atrial and intestinal dysrhythmia
Definition: A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction; caused by the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). [PMID:25282101]
Synonyms: CAID syndrome
ciliopathy
Definition: A genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. [PMID:18178628, PMID:21210154, url:http://en.wikipedia.org/wiki/Ciliopathy]
agnathia-otocephaly complex
Definition: A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. [PMID:17438667]
Synonyms: otocephaly
acromelic frontonasal dysostosis
Definition: A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations. [PMID:15264282]
glucocorticoid-induced osteoporosis
Definition: An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption. [PMID:17566815, PMID:22870429]
Synonyms: steroid-induced osteoporosis
acrodermatitis chronica atrophicans
Definition: An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.
Synonyms: primary diffuse atrophy
bacillary angiomatosis
Definition: A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs. [PMID:9407154, url:http://en.wikipedia.org/wiki/Bacillary_angiomatosis]
Native American myopathy
Definition: A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia; caused by homozygous mutation in the STAC3 gene on chromosome 12q13. [OMIM:255995, PMID:18553514]
acrorenal syndrome
Definition: A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. [PMID:26019842]
hypoparathyroidism-retardation-dysmorphism syndrome
Definition: An autosomal recessive disease characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation; it is seen among children born to consanguineous couple of Arab ethnicity. [PMID:15645691, PMID:24339556]
Synonyms: Sanjad-Sakati syndrome
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Definition: A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. [PMID:10482868, PMID:11302131, PMID:5936364]
Synonyms: microcephaly, lymphedema, chorioretinal dysplasia syndrome
adenine phosphoribosyltransferase deficiency
Definition: An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern. [PMID:20150536, url:http://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency, url:https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency]
Synonyms: APRT deficiency
mitochondrial complex III deficiency nuclear type 2
Definition: A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has material basis in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. [PMID:21278747, url:http://www.omim.org/entry/615157]
Synonyms: MC3DN2
Kleefstra syndrome
Definition: A syndrome characterized by childhood hypotonia, a distinctive facial appearance, speech impediments and developmental disability, as well as epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders. It is caused either by a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. [PMID:15264279, PMID:21245904, url:http://ghr.nlm.nih.gov/condition/kleefstra-syndrome, url:https://en.wikipedia.org/wiki/9q34_deletion_syndrome]
Synonyms: 9q34 deletion syndrome
acrofacial dysostosis Cincinnati type
Definition: An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is caused by heterozygous mutation in the POLR1A gene located in chromosome 2p11. [PMID:25913037]
Stormorken syndrome
Definition: A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It is caused by heterozygous in the STM1 gene located in chromosome 11p15. It has an autosomal dominant inheritance pattern. [PMID:24619930, PMID:25577287, url:http://ghr.nlm.nih.gov/condition/stormorken-syndrome]
Synonyms: thrombocytopathy, asplenia and miosis
amyotrohpic lateral sclerosis type 22
Definition: An amyotrophic lateral sclerosis caused_by mutation located_in TUBA4A gene located_in chromosome 2q35.
Synonyms: amyotrophic lateral sclerosis 22
Vici syndrome
Definition: An autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined\nimmunodeficiency and hypopigmentation. It is caused by mutation in the EPG5 gene located in chromosome 18q12.3. [PMID:21965116, PMID:23222957, url:https://en.wikipedia.org/wiki/Vici_syndrome]
Synonyms: immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
chylomicron retention disease
Definition: A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and is caused by mutations in the SAR1B gene located in chromosome 5q31.1. [PMID:10521380, PMID:20920215, PMID:3430059, PMID:3792776, url:https://en.wikipedia.org/wiki/Chylomicron_retention_disease]
Synonyms: CMRD
multiple acyl-CoA dehydrogenase deficiency
Definition: An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid,amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It is caused by mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. [PMID:12815589, PMID:22580358, url:http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii, url:https://en.wikipedia.org/wiki/Glutaric_acidemia_type_2]
Synonyms: MADD
Sakati-Nyhan syndrome
Definition: An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.
Synonyms: Sakati-Nyhan-Tisdale syndrome
hereditary papulotranslucent acrokeratoderma
Definition: A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. [PMID:16409913]
punctate palmoplantar keratoderma
Definition: A palmoplantar keratosis characterized by keratoses with a \raindrop\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution."
Synonyms: punctate palmoplantar hyperkeratosis
punctate palmoplantar keratoderma type III
Synonyms: punctate palmoplantar keratoderma type 3
glycerol kinase deficiency
Definition: An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype. It is caused by mutation in the GK gene on chromosome Xp21. [PMID:22427807, url:https://en.wikipedia.org/wiki/Glycerol_kinase_deficiency]
Galloway-Mowat syndrome
Definition: An autosomal recessive disease characterized_by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome. [PMID:20083416, PMID:26123727, url:https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome]
Synonyms: nephrosis-neuronal dysmigration syndrome
mandibulofacial dysostosis with alopecia
Definition: A syndrome characterized_by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. [PMID:25772936]
Synonyms: MFDA
Hennekam syndrome
Definition: A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It in inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients. [PMID:14564208, PMID:24870712, PMID:2624276, url:http://ghr.nlm.nih.gov/condition/hennekam-syndrome, url:https://en.wikipedia.org/wiki/Hennekam_syndrome]
Synonyms: lymphedem-lymphangiectasia-intellectual disability syndrome
autosomal dominant Parkinson disease 1
Definition: A Parkinson's disease caused by mutation in the alpha-synuclein gene, SNCA, on chromosome 4q22.1. [PMID:22315721, url:http://www.omim.org/entry/168601]
Synonyms: PARK1
autosomal recessive juvenile Parkinson disease 2
Definition: A Parkinson's disease caused by mutation in the parkin gene, PARK2, on chromosome 6q25.2-q27. [PMID:22315721]
Synonyms: PARK2
early-onset Parkinson disease 6
Definition: A Parkinson's disease caused by mutations in the PINK1 gene located on chromosome 1p36.12. [PMID:22315721]
Synonyms: PARK6
autosomal recessive early-onset Parkinson disease 7
Definition: A Parkinson's disease caused by homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. [PMID:22315721]
Synonyms: PARK7
autosomal dominant Parkinson disease 8
Definition: A Parkinson's disease caused by heterozygous mutation in the gene encoding dardarin , LRRK2, located on chromosome 12q12. [PMID:22315721]
Synonyms: PARK8
autosomal recessive early-onset Parkinson disease 15
Definition: A Parkinson's disease caused by mutation in the FBXO7 gene located on chromosome 22q12.3. [PMID:22315721]
Synonyms: Parkinsonian-pyramidal syndrome
orofaciodigital syndrome III
Synonyms: Sugarman syndrome
orofaciodigital syndrome IV
Synonyms: OFD4
orofaciodigital syndrome V
Synonyms: polydactyly, postaxial, with median cleft of upper lip
Joubert syndrome with orofaciodigital defect
Definition: A Joubert syndrome subtype with orofaciodigital defect. [PMID:23716954]
Synonyms: Varadi-Papp syndrome
orofaciodigital syndrome VII
Synonyms: Whelan syndrome
orofaciodigital syndrome VIII
Synonyms: OFD8
acrofacial dysostosis
orofaciodigital syndrome X
Synonyms: orofaciodigital syndrome with fibular aplasia
orofaciodigital syndrome XI
orofaciodigital syndrome IX
Synonyms: orofaciodigital syndrome with retinal abnormalities
acrofacial dysostosis Rodriguez type
Synonyms: acrofacial dysostosis, syndrome of Rodriguez
acrofacial dysostosis, Catania type
Synonyms: Opitz-Caltabiano syndrome
acrofacial dysostosis, Patagonia type
Chilblain lupus
chondrodysplasia Blomstrand type
Synonyms: Blomstrand lethal chondrodysplasia
chromosomal deletion syndrome
chromosome 10q23 deletion syndrome
distal 10q deletion syndrome
Synonyms: terminal chromosome 10q26 deletion syndrome
chromosome 13q14 deletion syndrome
Synonyms: deletion 13q14
chromosome 14q11-q22 deletion syndrome
Synonyms: 14q11.2 microdeletion syndrome
chromosome 15q11.2 deletion syndrome
Synonyms: 15q11.2 microdeletion syndrome
chromosome 15q13.3 microdeletion syndrome
Synonyms: 15q13.3 microdeletion syndrome
chromosome 15q24 deletion syndrome
Synonyms: 15q24 microdeletion syndrome
chromosome 15q25 deletion syndrome
chromosome 15q26-qter deletion syndrome
Synonyms: telomeric 15q deletion syndrome
chromosome 16p11.2 deletion syndrome, 220kb
Synonyms: distal 16p11.2 microdeletion syndrome
chromosome 16p12.1 deletion syndrome, 520kb
chromosome 16p12.2-p11.2 deletion syndrome
Synonyms: 16p11.2p12.2 microdeletion syndrome
chromosome 16q22 deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome, 1.4Mb
Synonyms: Van Asperen syndrome
chromosome 17q12 deletion syndrome
Synonyms: 17q12 microdeletion syndrome
chromosome 17q23.1-q23.2 deletion syndrome
Synonyms: 17q23.1q23.2 microdeletion syndrome
chromosome 18p deletion syndrome
Synonyms: monosomy 18p
chromosome 18q deletion syndrome
Synonyms: monosomy 18q
chromosome 19q13.11 deletion syndrome
Synonyms: monosomy 19q13.11
chromosome 1p32-p31 deletion syndrome
Synonyms: 1p31p32 microdeletion syndrome
chromosome 1p36 deletion syndrome
Synonyms: subtelomeric 1p36 deletion RELATED []
chromosome 1q21.1 deletion syndrome
Synonyms: monosomy 1q21.1 RELATED []
chromosome 1q41-q42 deletion syndrome
Synonyms: 1q41q42 microdeletion syndrome
chromosome 22q11.2 deletion syndrome, distal
Synonyms: distal 22q11.2 microdeletion syndrome
chromosome 2p12-p11.2 deletion syndrome
chromosome 2p16.1-p15 deletion syndrome
Synonyms: 2p15p16.1 microdeletion syndrome
chromosome 2q31.2 deletion syndrome
3p- syndrome
Synonyms: distal monosomy 3p
chromosome 3q13.31 deletion syndrome
Synonyms: monosomy 3q13
chromosome 3q29 microdeletion syndrome
Synonyms: 3qter deletion
chromosome 4q21 deletion syndrome
Synonyms: monosomy 4q21
chromosome 5q12 deletion syndrome
chromosome 6pter-p24 deletion syndrome
Synonyms: distal monosomy 6p
chromosome 6q11-q14 deletion syndrome
chromosome 6q24-q25 deletion syndrome
Synonyms: monosomy 6q25
chromosome 8q21.11 deletion syndrome
Synonyms: 8q21.11 microdeletion syndrome
chromosome 19p13.13 deletion syndrome
chromosome Xp21 deletion syndrome
Synonyms: Xp21 microdeletion syndrome
chromosome 2q32-q33 deletion syndrome
Synonyms: monosomy 2q32q33
chromosomal duplication syndrome
chromosome 16p11.2 duplication syndrome
Synonyms: proximal trisomy 16p11.2
chromosome 16p13.3 duplication syndrome
Synonyms: telomeric duplication 16p
chromosome 17p13.3 duplication syndrome
Synonyms: trisomy 17p13.3
chromosome 17q12 duplication syndrome
Synonyms: trisomy 17q12
chromosome 17q21.31 duplication syndrome
Synonyms: trisomy 17q21.31
chromosome 1q21.1 duplication syndrome
Synonyms: trisomy 1q21.1
chromosome 22q11.2 microduplication syndrome
Synonyms: trisomy 22q11.2
chromosome 22q13 duplication syndrome
Cole-Carpenter syndrome
Definition: An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. [PMID:10842295]
lysinuric protein intolerance
Definition: An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It is caused by homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. [PMID:1155480, url:http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance, url:http://www.ncbi.nlm.nih.gov/books/NBK1361/, url:https://en.wikipedia.org/wiki/Lysinuric_protein_intolerance]
Synonyms: LPI
epithelial and subepithelial dystrophy
epithelial-stromal TGFBI dystrophy
stromal dystrophy
endothelial dystrophy
granular corneal dystrophy type II
Synonyms: granular corneal dystrophy type 2
congenital stromal corneal dystrophy
Synonyms: CSCD
X-linked endothelial corneal dystrophy
Synonyms: XECD
epithelial basement membrane dystrophy
Synonyms: microcystic corneal dystrophy
Fleck corneal dystrophy
Synonyms: Francois-Neetens speckled corneal dystrophy
gelatinous drop-like corneal dystrophy
Synonyms: subepithelial amyloidosis of the cornea
Lisch epithelial corneal dystrophy
Synonyms: LECD
Meesmann corneal dystrophy
Synonyms: Stocker-Holt dystrophy
posterior amorphous corneal dystrophy
Synonyms: PACD
Reis-Bucklers corneal dystrophy
Synonyms: RBCD
subepithelial mucinous corneal dystrophy
Synonyms: SMCD
Thiel-Behnke corneal dystrophy
Synonyms: Waardenburg-Jonker corneal dystrophy
Schnyder corneal dystrophy
Synonyms: Schnyder crystalline corneal dystrophy
posterior polymorphous corneal dystrophy
Synonyms: Schlichting dystrophy
chromosome 2q31.1 duplication syndrome
chromosome 3q29 microduplication syndrome
Synonyms: trisomy 3q29
chromosome 5p13 duplication syndrome
Synonyms: trisomy 5p13
chromosome Xp11.23-p11.22 duplication syndrome
Synonyms: trisomy Xp11.22-p11.23
Desbuquois dysplasia
Definition: An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. [PMID:19853239, PMID:21037275]
Synonyms: micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification